{"doi":"10.3233/cbm-2009-0118","title":"A ten markers panel provides a more accurate and complete microsatellite instability analysis in mismatch repair-deficient colorectal tumors","abstract":"<jats:p>Tumour microsatellite instability (MSI) is useful in identifying patients with hereditary non-polyposis colorectal cancer (HNPCC) with defective DNA mismatch repair (MMR} genes. A reference Bethesda panel has limitations resulting from the inclusion of dinucleotide markers, which are less sensitive and specific for detection of tumours with MMR deficiencies. We developed a multiplex PCR assay with additional four mononucleotide markers and one dinucleotide marker (NR-21, NR-24, BAT-40, TGF-BetaR and D18S58) for a rapid and proper classification of MSI-H, MSI-L and MSS colorectal cancers. Two tetranucleotide markers were added to identify sample mix-ups and/or contamination. Results: all the 44 cases test cases were in agreement with previous classification except for three cases: one case MSI-H-Bethesda unstable only for dinucleotides markers shifted to MSI-L category and two cases MSI-L-Bethesda unstable for mononucleotide markers shifted to MSI-H category. Immunohistochemistry analysis revealed that these two MSI-H cases did not expressed hMLH1 and they were found to be methylated at the MLH1 promoter, while the first one that shifted to MSI-L showed MMR protein expression. Conclusion: a complete panel of ten markers including four dinucleotide and six mononucleotide microsatellites allows accurate evaluation of tumor MSI status.</jats:p>","journal":"Cancer Biomarkers","year":2009,"id":34783,"datarank":1.6149057834222462,"base_score":3.4011973816621555,"endowment":3.4011973816621555,"self_citation_contribution":0.5101796072493234,"citation_network_contribution":1.1047261761729228,"self_endowment_contribution":0.5101796072493234,"citer_contribution":1.1047261761729228,"corpus_percentile":null,"corpus_rank":null,"citation_count":29,"citer_count":26,"citers_with_citation_signal":23,"citers_with_endowment":23,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":null,"is_data_producer":false,"deposit_databanks":null,"is_oa":false,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":null,"fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":179527,"name":"Maria Vittoria Enzo","orcid":null,"position":1,"is_corresponding":false},{"id":179529,"name":"Luca Morandi","orcid":null,"position":2,"is_corresponding":false},{"id":179530,"name":"Chiara Bedin","orcid":null,"position":3,"is_corresponding":false},{"id":179531,"name":"Silvia Pizzini","orcid":null,"position":4,"is_corresponding":false},{"id":179532,"name":"Silvia Mason","orcid":null,"position":5,"is_corresponding":false},{"id":179533,"name":"Roberta Bertorelle","orcid":null,"position":6,"is_corresponding":false},{"id":179534,"name":"Emanuele Urso","orcid":null,"position":7,"is_corresponding":false},{"id":179535,"name":"Claudia Mescoli","orcid":null,"position":8,"is_corresponding":false},{"id":179536,"name":"Mario Lise","orcid":null,"position":9,"is_corresponding":false},{"id":179537,"name":"Salvatore Pucciarelli","orcid":null,"position":10,"is_corresponding":false},{"id":179538,"name":"Donato Nitti","orcid":null,"position":11,"is_corresponding":false},{"id":179526,"name":"Marco Agostini","orcid":null,"position":0,"is_corresponding":false}],"reference_count":0,"raw_metadata":{"has_enrichment":true,"base_score":3.4011973816621555,"endowment":3.4011973816621555,"datacite_reuse_total":0,"file_count":0,"downloads":0,"views":0,"has_version_chain":false,"is_dataset":false,"is_oa":false,"pmid":"20164541","pmcid":"PMC12922838","openalex_id":"https://openalex.org/W2149714438","authors":[],"funders":[],"total_grants":0,"fwci":2.6483,"citation_percentile":0.89429411,"influential_citations":2,"citation_trend":[{"year":2012,"count":7},{"year":2013,"count":1},{"year":2014,"count":1},{"year":2015,"count":5},{"year":2017,"count":2},{"year":2018,"count":2},{"year":2021,"count":1},{"year":2022,"count":2},{"year":2023,"count":2}],"oa_status":"green","license":"https://journals.sagepub.com/page/policies/text-and-data-mining-license","oa_locations":[{"url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC12922838/","host_type":"repository"},{"url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC12922838/","host_type":"repository"},{"url":"https://journals.sagepub.com/doi/pdf/10.3233/CBM-2009-0118","host_type":"publisher"},{"url":"https://doi.org/10.3233/cbm-2009-0118","host_type":"journal"},{"url":"https://pubmed.ncbi.nlm.nih.gov/20164541","host_type":"repository"},{"url":"http://hdl.handle.net/11585/566562","host_type":"repository"},{"url":"http://hdl.handle.net/11577/2450615","host_type":"repository"}],"fields_of_study":["Genetic factors in colorectal cancer","Colorectal Cancer Treatments and Studies","Digestive system and related health","Medicine","Biology"],"mesh_terms":["MutL Protein Homolog 1","Colorectal Neoplasms, Hereditary Nonpolyposis","DNA Mutational Analysis","DNA-Binding Proteins","Humans","Immunohistochemistry","Nuclear Proteins","Biomarkers, Tumor","Polymerase Chain Reaction","DNA Methylation","Adaptor Proteins, Signal Transducing","MutS Homolog 2 Protein","Microsatellite Instability","DNA Mismatch Repair"],"keywords":["Microsatellite instability","MLH1","DNA mismatch repair","Microsatellite","Colorectal cancer","Multiplex","Biology","Cancer","Lynch syndrome","Cancer research","Molecular biology","Genetics","Pathology","Medicine","Gene","Allele"],"sdg_mappings":[{"sdg_number":0,"sdg_label":"Good health and well-being"}],"linked_datasets":[],"clinical_trials":[],"software_tools":[],"database_accessions":[],"source":"live","citation_network_status":"fetched"},"created_at":"2026-06-09T20:13:54.587576Z","pmid":null,"pmcid":null,"fwci":null,"citation_percentile":null,"influential_citations":0,"oa_status":null,"license":null,"views":0,"total_file_size_bytes":0,"version_count":0,"fair_f":null,"fair_a":null,"fair_i":null,"fair_r":null,"fair_zscore":null,"fair_rationale":null,"fair_model":null,"fair_agent_version":null,"fair_fulltext_source":null,"fair_has_llm":null,"fair_computed_at":null,"clinical_trials":[],"software_tools":[],"db_accessions":[],"linked_datasets":[],"topics":[]}